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Landscape of Somatic Retrotransposition in Human Cancers
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Landscape of Somatic Retrotransposition in Human Cancers
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Landscape of Somatic Retrotransposition in Human Cancers
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Journal Article
Landscape of Somatic Retrotransposition in Human Cancers
2012
Overview
Transposable elements (TEs) are abundant in the human genome, and some are capable of generating new insertions through RNA intermediates. In cancer, the disruption of cellular mechanisms that normally suppress TE activity may facilitate mutagenic retrotranspositions. We performed single-nucleotide resolution analysis of TE insertions in 43 high-coverage whole-genome sequencing data sets from five cancer types. We identified 194 high-confidence somatic TE insertions, as well as thousands of polymorphic TE insertions in matched normal genomes. Somatic insertions were present in epithelial tumors but not in blood or brain cancers. Somatic L1 insertions tend to occur in genes that are commonly mutated in cancer, disrupt the expression of the target genes, and are biased toward regions of cancer-specific DNA hypomethylation, highlighting their potential impact in tumorigenesis.
Publisher
American Association for the Advancement of Science,The American Association for the Advancement of Science
Subject
/ Biological and medical sciences
/ Blood
/ Brain
/ Cancer
/ Cell Transformation, Neoplastic
/ Colorectal Neoplasms - genetics
/ Female
/ Gene Expression Regulation, Neoplastic
/ Genes
/ Genetics
/ Genomes
/ Genomics
/ Humans
/ Long Interspersed Nucleotide Elements
/ Male
/ Mammals
/ Molecular Sequence Annotation
/ Multiple tumors. Solid tumors. Tumors in childhood (general aspects)
/ Mutation
/ Ovarian Neoplasms - genetics
/ Prostatic Neoplasms - genetics
/ Tumors
